Genetic polymorphisms of XRCC1 (at codons 194 and 399) in Shiraz population (Fars province, southern Iran)

Objective Several potential functional polymorphisms in the DNA base excision repair gene X-ray repair cross-complementing group 1 (XRCC1) have been reported. There has been no information on interindividual variability of Arg194Trp and Arg399Gln polymorphisms of XRCC1 in the Iranian population. Due to the association between the polymorphisms of XRCC1 and the risk of some types of cancers, the present study was done. Methods The genetic polymorphisms of XRCC1 were detected by PCR-based method in 707 healthy individuals from Shiraz population, (Fars province, southern Iran). Results Considering that there was no statistically significant difference between males and females, the sex groups were pooled. The frequencies of 194Trp and 399Gln alleles were 9.05% and 33.95%, respectively. When both polymorphisms were considered, the linkage-disequilibrium was observed (D' = 0.8986, r(2) = 0.0413, P < 0.00001). Conclusion The present results indicated that the allelic frequencies in Iranian populations showed intermediate frequencies in comparison with European and other Asian countries.